Factor V Leiden and Prothrombin gene mutations in patients with arterial thrombotic diseases from Kashmiri population

Mahrukh H Zargar; Syed Shafia; Qurteeba Mahajan; Rehana Ahmad; Nabeela Khan

Volume : VI, Issue : X, October - 2017

Factor V Leiden and Prothrombin gene mutations in patients with arterial thrombotic diseases from Kashmiri population

Mahrukh H Zargar, Syed Shafia, Qurteeba Mahajan, Rehana Ahmad, Nabeela Khan

Abstract :

Aim: The role of FVL mutation and prothrombin gene mutation have been well established in venous thrombolism. The aim of this study was to investigate whether these mutations have a role in arterial thrombotic disease namely ischemic stroke and intracranial hemorrhagic in Kashmiri population.

Methodology: A case–control study was designed with 75 ischemic stroke patients, 75 intracranial hemorrhagic patients and 100 healthy controls. The mutations were analysed using ARMS– PCR and PCR–RFLP approach.

Result: The FVL GA genotype was found to be to be significantly associated with the increased risk of ischemic stroke (p=0.03) while no association was found with intracranial haemorrhage (p=0.07). The prothrombin 20210 G > A mutation was not found in any of the cases or controls.

Conclusion: The increased frequency of FVL mutation in ischemic stroke patients indicates a significant role of this mutation in the development of ischemic stroke in our population. We therefore suggest the routine screening of FVL mutation as a thrombophilic marker in Kashmiri patients with arterial thrombosis.